Mutagenetix > Incidental Mutation

Incidental Mutation 'R6731:Pcbp2'

530082

Institutional Source

Beutler Lab

Gene Symbol

Pcbp2

Ensembl Gene

ENSMUSG00000056851

Gene Name

poly(rC) binding protein 2

Synonyms

alphaCP-2, Hnrpx

MMRRC Submission

044849-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R6731 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102378974-102408496 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102397225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 237 (S237P)

Ref Sequence

ENSEMBL: ENSMUSP00000155430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077037] [ENSMUST00000078404] [ENSMUST00000108838] [ENSMUST00000229061] [ENSMUST00000229102] [ENSMUST00000229184] [ENSMUST00000229746] [ENSMUST00000229802] [ENSMUST00000229618] [ENSMUST00000230114] [ENSMUST00000229918] [ENSMUST00000229854] [ENSMUST00000230211] [ENSMUST00000229958] [ENSMUST00000230728] [ENSMUST00000230918] [ENSMUST00000230577] [ENSMUST00000230539] [ENSMUST00000231089] [ENSMUST00000231085]

AlphaFold

Q61990

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077037
AA Change: S268P

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000076294
Gene: ENSMUSG00000056851
AA Change: S268P

Domain	Start	End	E-Value	Type
KH	12	80	5.96e-15	SMART
KH	96	167	2.48e-12	SMART
KH	283	353	5.19e-15	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078404
AA Change: S268P

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077509
Gene: ENSMUSG00000056851
AA Change: S268P

Domain	Start	End	E-Value	Type
KH	12	80	5.96e-15	SMART
KH	96	167	2.48e-12	SMART
KH	270	340	5.19e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108838

SMART Domains

Protein: ENSMUSP00000104466
Gene: ENSMUSG00000056851

Domain	Start	End	E-Value	Type
KH	12	80	5.96e-15	SMART
KH	96	167	2.48e-12	SMART
KH	252	322	5.19e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184881

Predicted Effect

probably benign
Transcript: ENSMUST00000229061

Predicted Effect

probably benign
Transcript: ENSMUST00000229102

Predicted Effect

probably benign
Transcript: ENSMUST00000229184
AA Change: S223P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229219
AA Change: S230P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000229746
AA Change: S199P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229802
AA Change: S241P

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229533
AA Change: S185P

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229618
AA Change: S237P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230114
AA Change: S268P

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229918
AA Change: S241P

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230282

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229822

Predicted Effect

probably benign
Transcript: ENSMUST00000229854

Predicted Effect

probably benign
Transcript: ENSMUST00000230211

Predicted Effect

probably benign
Transcript: ENSMUST00000229958

Predicted Effect

probably benign
Transcript: ENSMUST00000229432

Predicted Effect

probably benign
Transcript: ENSMUST00000230728
AA Change: S272P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000230918
AA Change: S206P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000230577
AA Change: S241P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230682
AA Change: S145P

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000230539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230631

Predicted Effect

probably benign
Transcript: ENSMUST00000231089

Predicted Effect

probably benign
Transcript: ENSMUST00000231085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230997

Meta Mutation Damage Score

0.0907

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.3%

Validation Efficiency

98% (47/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene appears to be multifunctional. Along with PCBP-1 and hnRNPK, it is one of the major cellular poly(rC)-binding proteins. The encoded protein contains three K-homologous (KH) domains which may be involved in RNA binding. Together with PCBP-1, this protein also functions as a translational coactivator of poliovirus RNA via a sequence-specific interaction with stem-loop IV of the IRES, promoting poliovirus RNA replication by binding to its 5'-terminal cloverleaf structure. It has also been implicated in translational control of the 15-lipoxygenase mRNA, human papillomavirus type 16 L2 mRNA, and hepatitis A virus RNA. The encoded protein is also suggested to play a part in formation of a sequence-specific alpha-globin mRNP complex which is associated with alpha-globin mRNA stability. This multiexon structural mRNA is thought to be retrotransposed to generate PCBP-1, an intronless gene with functions similar to that of PCBP2. This gene and PCBP-1 have paralogous genes (PCBP3 and PCBP4) which are thought to have arisen as a result of duplication events of entire genes. Thsi gene also has two processed pseudogenes (PCBP2P1 and PCBP2P2). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for a knock-out allele exhibit decreased body weight, impaired erythroblast maturation and lowered mean platelet counts. Mice homozygous for this allele die between E12.5 and E15.5 with hemorrhage and edema. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta1	G	A	8: 124,619,956 (GRCm39)	T128I	probably damaging	Het
Ahnak	T	A	19: 8,988,926 (GRCm39)	D3403E	possibly damaging	Het
Aldoc	T	A	11: 78,216,918 (GRCm39)	D319E	probably benign	Het
Ank3	T	A	10: 69,849,858 (GRCm39)	D1108E	possibly damaging	Het
Ankrd7	G	A	6: 18,866,653 (GRCm39)	G58S	probably damaging	Het
Ass1	A	T	2: 31,404,796 (GRCm39)	Y359F	probably damaging	Het
B3gnt2	G	T	11: 22,786,888 (GRCm39)	S100*	probably null	Het
Cd46	T	C	1: 194,765,775 (GRCm39)		probably null	Het
Chst5	G	T	8: 112,616,676 (GRCm39)	R315S	probably benign	Het
Cps1	T	C	1: 67,200,030 (GRCm39)	S393P	probably damaging	Het
Dis3l	T	C	9: 64,217,720 (GRCm39)		probably null	Het
Fgg	T	C	3: 82,920,208 (GRCm39)	F329S	probably damaging	Het
Hsp90b1	T	C	10: 86,537,769 (GRCm39)	T179A	probably benign	Het
Kat2a	A	T	11: 100,599,099 (GRCm39)	M559K	probably damaging	Het
Klhl41	T	C	2: 69,505,044 (GRCm39)	I449T	probably damaging	Het
Lama5	A	T	2: 179,830,367 (GRCm39)	I1880N	probably benign	Het
Lcp1	A	G	14: 75,443,629 (GRCm39)	D215G	probably damaging	Het
Lrch3	A	G	16: 32,770,790 (GRCm39)	T131A	probably damaging	Het
Mroh6	T	C	15: 75,760,341 (GRCm39)	T78A	probably benign	Het
Naa15	T	G	3: 51,363,294 (GRCm39)	V326G	probably damaging	Het
Nalcn	T	A	14: 123,837,346 (GRCm39)	Q6L	probably benign	Het
Nipbl	T	A	15: 8,352,074 (GRCm39)	I1863L	probably damaging	Het
Obi1	C	T	14: 104,716,910 (GRCm39)	V488I	probably benign	Het
Os9	C	T	10: 126,934,412 (GRCm39)	G408D	probably benign	Het
Pcdhb10	G	A	18: 37,546,529 (GRCm39)	R535H	probably benign	Het
Pex5l	A	T	3: 33,012,947 (GRCm39)	I320K	probably damaging	Het
Pgm2	T	C	5: 64,258,318 (GRCm39)	F101S	probably benign	Het
Phf8-ps	A	G	17: 33,285,200 (GRCm39)	V534A	probably benign	Het
Poc1b	T	A	10: 98,988,733 (GRCm39)	D207E	probably null	Het
Pou6f1	T	C	15: 100,477,764 (GRCm39)	I460V	possibly damaging	Het
Rnf17	A	T	14: 56,761,807 (GRCm39)	Q1623H	possibly damaging	Het
Rpap1	T	C	2: 119,608,777 (GRCm39)	N195S	probably benign	Het
Sacs	C	A	14: 61,418,149 (GRCm39)		probably null	Het
Scube2	G	A	7: 109,409,944 (GRCm39)	T643M	probably damaging	Het
Sele	C	T	1: 163,881,242 (GRCm39)	L481F	probably damaging	Het
Stk32a	A	G	18: 43,438,143 (GRCm39)	Y214C	probably damaging	Het
Tex44	T	A	1: 86,354,207 (GRCm39)	S39T	probably benign	Het
Tmem135	A	T	7: 88,893,172 (GRCm39)	M140K	possibly damaging	Het
Tox2	A	G	2: 163,162,297 (GRCm39)	Y354C	probably damaging	Het
Trim21	A	T	7: 102,208,419 (GRCm39)	F433L	probably damaging	Het
Trim24	T	C	6: 37,920,420 (GRCm39)	F406L	probably damaging	Het
Ubr1	G	C	2: 120,786,121 (GRCm39)	H166Q	probably null	Het
Wnt16	T	A	6: 22,297,891 (GRCm39)	Y252*	probably null	Het
Yod1	G	A	1: 130,645,275 (GRCm39)	G19S	probably damaging	Het
Zfp141	T	C	7: 42,138,924 (GRCm39)	D36G	probably damaging	Het
Zfp729a	C	T	13: 67,768,265 (GRCm39)	V655I	probably benign	Het
Zfp974	A	T	7: 27,611,074 (GRCm39)	V217E	possibly damaging	Het

Other mutations in Pcbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Pcbp2	APN	15	102,399,148 (GRCm39)	missense	probably damaging	1.00
IGL01530:Pcbp2	APN	15	102,392,601 (GRCm39)	missense	probably benign	0.03
IGL01641:Pcbp2	APN	15	102,382,575 (GRCm39)	missense	probably damaging	1.00
IGL02966:Pcbp2	APN	15	102,392,684 (GRCm39)	splice site	probably benign
Plastic	UTSW	15	102,399,214 (GRCm39)	missense	probably damaging	1.00
R0116:Pcbp2	UTSW	15	102,382,670 (GRCm39)	splice site	probably benign
R0924:Pcbp2	UTSW	15	102,398,197 (GRCm39)	missense	probably damaging	1.00
R4227:Pcbp2	UTSW	15	102,387,066 (GRCm39)	missense	probably benign	0.38
R5333:Pcbp2	UTSW	15	102,394,456 (GRCm39)	missense	possibly damaging	0.82
R5653:Pcbp2	UTSW	15	102,395,524 (GRCm39)	missense	probably damaging	1.00
R5814:Pcbp2	UTSW	15	102,391,597 (GRCm39)	missense	probably damaging	0.99
R7120:Pcbp2	UTSW	15	102,383,113 (GRCm39)	missense	possibly damaging	0.94
R7320:Pcbp2	UTSW	15	102,381,782 (GRCm39)	missense	probably damaging	1.00
R8025:Pcbp2	UTSW	15	102,396,711 (GRCm39)	missense	probably benign	0.04
R8831:Pcbp2	UTSW	15	102,394,453 (GRCm39)	missense	probably benign	0.02
R8969:Pcbp2	UTSW	15	102,399,214 (GRCm39)	missense	probably damaging	1.00
R9231:Pcbp2	UTSW	15	102,394,477 (GRCm39)	critical splice donor site	probably null
R9498:Pcbp2	UTSW	15	102,406,941 (GRCm39)	missense	probably benign	0.00
R9571:Pcbp2	UTSW	15	102,383,113 (GRCm39)	missense	possibly damaging	0.94
R9623:Pcbp2	UTSW	15	102,392,628 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCCACCTTGATCTGATTAG -3'
(R):5'- CCATCAAGGGACCCTAAAGG -3'

Sequencing Primer
(F):5'- CCAGGTATTCACAAGACTTGGG -3'
(R):5'- CAAGACTCCCACCAGTTT -3'

Posted On

2018-08-01